Andreas Wernitznig
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sciencedata.at
Andreas Wernitznig
@sciencedata.at
Data Scientist
Dublin, Ireland and Vienna, Austria
wernitznig.com
Illumina's Dragen covers numerous aspects of genome analysis and variant detection. Impressive to read about their comprehensive pipeline: doi.org/10.1038/s415...
Comprehensive genome analysis and variant detection at scale using DRAGEN - Nature Biotechnology
DRAGEN rapidly identifies diverse types of genetic variants.
doi.org
July 7, 2025 at 10:26 PM
Parkinson's disease (PD) could be detected by a simple blood test: Even before the first symptoms elevated levels of PD-specific transfer RNA fragments can be found.
doi.org/10.1038/s435...
Pre-symptomatic Parkinson’s disease blood test quantifying repetitive sequence motifs in transfer RNA fragments - Nature Aging
Madrer et al. identify a Parkinson’s disease–specific increase in transfer RNA (tRNA) fragments in human blood, cerebrospinal fluid and postmortem brain tissue, demonstrating the ability of blood-base...
doi.org
April 14, 2025 at 5:03 AM
Detecting genetic diseases after birth helps to start treatment earlier. As a side effect, it might disclose real fatherhood. Correct, Svante Pääbo?
doi.org/10.1038/s415...
Baby genomics: newborn sequencing starts to fulfill its promise - Nature Biotechnology
Genome sequencing in newborns is delivering insights into severe genetic diseases not afforded by traditional tests, but integrating genomics into newborn screening remains a logistics and cost challe...
doi.org
March 20, 2025 at 11:17 PM
The quick diagnosis of rare genetic diseases from DNA sequencing data is crucial. The fully automated analysis (from a vcf-file) is just a matter of minutes to an hour. Nice work by Fabric Genomics and the Rady Children’s hospital:
doi.org/10.1186/s130...
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases - Genome Medicine
Background Clinical interpretation of genetic variants in the context of the patient’s phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genet...
doi.org
January 14, 2025 at 3:31 PM
This great paper sheds light on a mechanism in cancer immunity.
MHC-I cross-dressing is crucial for anti-tumor CD8+ T cell priming by DCs. www.cell.com/immunity/ful...
Dendritic cells can prime anti-tumor CD8+ T cell responses through major histocompatibility complex cross-dressing
Although antigen cross-presentation is important for DCs to orchestrate anti-tumor CD8+ T cell responses, the role of alternative antigen presentation pathways is unclear. MacNabb et al. show that CD8+ T cell priming can be mediated by DCs that acquire and present tumor-derived MHC-I complexes—a phenomenon known as MHC cross-dressing.
www.cell.com
January 3, 2025 at 7:36 AM
Just read (again) the cancer antigen discovery paper by CureVac's bioinformatics group. Using complementary Oxford Nanopore sequencing in addition to the Illumina RNA- and DNA-Seq brings up new and different potential antigens, in contrast to using TCGA/GTEx alone.
doi.org/10.1158/2326...
The Neo-Open Reading Frame Peptides That Comprise the Tumor Framome Are a Rich Source of Neoantigens for Cancer Immunotherapy
Identifying immunogenic cancer neoantigens for cancer vaccine design is challenging. The authors uncover NOPs as a widespread source of neoantigens derived from structural genomic variants and indels....
doi.org
November 20, 2024 at 2:56 PM
As a frequent user of depmap.org, I am impressed about the outstanding achievements summarized in this Nature Reviews cancer article: doi.org/10.1038/s415...
The present and future of the Cancer Dependency Map - Nature Reviews Cancer
The Cancer Dependency Map (DepMap) is a data repository and research platform that can be utilized to systematically identify cancer vulnerabilities. Here Arafeh, Shibue et al. outline the current lim...
doi.org
November 17, 2024 at 5:23 AM